A5085719320- Pediatric Hepatobiliary Diseases and Treatments
- Gallbladder and Bile Duct Disorders
- Metabolism and Genetic Disorders
- Congenital Anomalies and Fetal Surgery
- Neonatal Health and Biochemistry
- Intestinal Malrotation and Obstruction Disorders
- Neonatal Respiratory Health Research
- Genomics and Rare Diseases
- Virus-based gene therapy research
- Lysosomal Storage Disorders Research
- Infant Nutrition and Health
- Plant Virus Research Studies
- Diet and metabolism studies
- Genetic Syndromes and Imprinting
- Animal Virus Infections Studies
- COVID-19 Impact on Reproduction
- Liver Disease Diagnosis and Treatment
- RNA modifications and cancer
- Genetics and Neurodevelopmental Disorders
- Biochemical and Molecular Research
- COVID-19 Clinical Research Studies
- SARS-CoV-2 and COVID-19 Research
- Congenital Diaphragmatic Hernia Studies
- Mitochondrial Function and Pathology
- Congenital heart defects research
Sechenov University
2017-2024
National Medical Research Center for Obstetrics, Gynecology and Perinatology named after Academician V.I.Kulakov of the Ministry of Healthcare of the Russian Federation
2012-2024
Research Centre for Medical Genetics
2024
Ministry of Health of the Russian Federation
2021-2023
Russian Medical Academy of Continuous Professional Education
2023
Yaroslavl State Medical Academy
2021
Far Eastern State Medical University
2021
Rostov Research Institute of Oncology
2015
Torque teno virus is a small chronically persisting circular negative ssDNA reaching near 100% prevalence. It reported to be marker for immune function in immunocompromised patients. The possibility of vertical maternal-fetal transmission remains controversial but incidence rate TTV DNA children increased with age. dynamics well studied allogeneic hematopoietic stem cell transplantation as predictor post-transplant complications there no viral proliferation kinetics data other patient groups...
The effective implementation of whole-exome sequencing- and whole-genome sequencing-based diagnostics in the management children affected with genetic diseases rapid decrease cost next-generation sequencing (NGS) enables expansion this method to newborn screening programs. Such NGS-based greatly increases number that can be detected compared conventional screening, as latter is aimed at early detection a limited inborn diseases. Moreover, testing provides new possibilities for family members...
Niemann-Pick disease type C (NP-C) is an inherited neurodegenerative (1 per 100 000 newborns) caused by NPC proteins impairment that leads to unesterified cholesterol accumulation in late endosomal/lysosomal compartments. To date the NP-C diagnostics usually based on detection fibroblasts using invasive and time-consuming Filipin staining we need more arguments widely introduce oxysterols as a biomarkers NP-C. Insofar represents about 8% of all infant cholestases, this prospective...
The congenital disorder of glycosylation type IIs (ATP6AP1-CDG; OMIM# 300972) is a rare X-linked recessive complex syndrome characterized by liver dysfunction, recurrent bacterial infections, hypogammaglobulinemia, and defective serum proteins. Here, we examine the case 1-year-old male patient Buryat origin, who presented with dysfunction. At age 3 months, he was hospitalized jaundice hepatosplenomegaly. Whole-exome sequencing identified ATP6AP1 gene missense variant NM_001183.6:c.938A>G...
Alagille syndrome (ALGS) is a multisystem condition characterized by cholestasis and bile duct paucity on liver biopsy variable involvement of the heart, skeleton, eyes, kidneys, face caused pathogenic variants in JAG1 or NOTCH2 gene. The expressivity clinical phenotype lack genotype-phenotype correlations lead to significant diagnostic difficulties. Here we present an analysis 18 patients with who were diagnosed ALGS. We used NGS panel targeting coding exons 52 genes, including genes....
Biliary atresia (BA) is the leading cause of neonatal cholestasis (25-45%). The primary treatment hepatic portoenterostomy (Kasai procedure), but only 20-40% provide long-term benefits. This study aimed to develop a predictive model for surgical efficacy by comparing preoperative and early postoperative indicators in infants with different outcomes.
It is a common fact that children are less susceptible to COVID-19 than adults, and they usually have milder forms often without symptoms, due the age-related characteristics of their immune response features renin-angiotensin system (RAS). The recent studies shown RAS elements widely represented in lungs, actively participate inflammation process addition main vasoregulatory function. cascade reactions one key links pathogenesis COVID-19, it analyzed from two positions: expression ACE2...
Niemann–Pick disease type C is a rare metabolic characterized by progressive neurological deterioration with childhood onset, and often results in premature mortality. has an extremely heterogeneous clinical presentation wide range of visceral signs symptoms that are not specific to the disease, which progress over varied periods time. The incidence epidemiology Russia have been characterized. We report case Russian newborn early-infantile onset who displayed prolonged neonatal jaundice...
This prospective study enrolled 144 patients after surgical treatment of biliary atresia in early infancy. We analyzed the immediate effectiveness surgery and age-related structure complications up to 16-year follow-up. The 2-year survival rate constituted 49.5%. At time this writing, 17 had celebrated their 10th birthdays with good quality life no indications for transplantation liver. obtained results underscore critical importance correction by Kasai first 60 days subsequent dynamic...
Журнал для непрерывного медицинского образования врачей ОРИГИНАЛЬНЫЕ ИССЛЕДОВАНИЯ Ассоциация гипераммониемии с перинатальной асфиксией у новорожденныхНеонатальная гипераммониемия -это патологическое состояние, возникающее вследствие наследственного нарушения обмена веществ или осложненного течения перинатального периода.Одним из факторов развития транзиторной новорожденных является перенесенная асфиксия, вызывающая гипоксическое и токсико-метаболическое повреждение клеток центральной нервной системы
The objective. To analyze early and long-term results of surgical treatment biliary atresia in children. 120 patients with underwent Kasai procedure from 2000 to 2018. follow-up course varied 6 months 15 years. authors assessed the survival rate children native liver without indications for transplantation different age periods, as well frequency complications, bacterial cholangitis, portal hypertension, etc. results. within 1 year was 82.7%; 2 years – 57.72%; 3 49.6%; 5 42.1%; over 10...
To compare early and long-term results of different surgical interventions in children with biliary atresia.Retrospective analysis included medical records atresia who were treated at the Filatov Munitsipal Children's Hospital National Medical Research Center for Obstetrics, Gynecology Perinatology from 2000 to 2018. There 91 patients. All patients divided into three groups. Group 1 - conventional Kasai procedure (n=24), group 2 laparoscopic surgery (n=45), 3 through minimally invasive...
Congenital hyperinsulinusm is rare disease characterized high secretion of insulin by pancreatic beta cells leading to the development hypoglycemia. Persistent and transient forms hyperinsulinism are distinguished. Transient most common cause severe hypoglycemia in newborns. The etiology this not known. There risk factors for hyperinsulinism: asphyxia at birth, prematurity, maternal diabetes, low or large weight gestation. Hypoglycemia with severe. Therefore, early diagnosis therapy...
Population screening of newborns is an extremely important and informative diagnostic approach that allows early identification babies who are predisposed to the development a number serious diseases. Some these diseases known have effective treatment methods. Neonatal enables diagnosis subsequent timely initiation therapy. This helps prevent complications reduce percentage disability deaths among young children. Primary immunodeficiency primary syndrome (PIDS) heterogeneous group conditions...
Background: Cholestatic liver disease is an important cause of morbidity and mortality a leading indication for transplantation in children. These include diseases, such as biliary atresia, Alagille syndrome, progressive familial intrahepatic cholestasis, sclerosing cholangitis, bile acid synthesis defects, many others. Case Presentation: NGS was used diagnostic tool to identify the genetic patient with cholestatic syndrome figure out describe what mutation will be found. In present...
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The review is focused on exploring the etiology, pathogenesis, clinical manifestations, and primarily contemporary treatment methods for Crigler–Najjar syndrome type 1. It considers relevant data regarding efficacy safety of currently existing therapeutic strategies. Effective management this condition relies early diagnosis prompt initiation treatment, which are crucial preventing disabling neurological complications associated with bilirubin encephalopathy in patients Prolonged...
Background: The reduction in next-generation sequencing (NGS) costs allows for using this method newborn screening monogenic diseases (MDs). In report, we describe a clinical case of participating the EXAMEN project (ClinicalTrials.gov Identifier: NCT05325749). Methods: child presented with convulsive syndrome on third day life. Generalized seizures were accompanied by electroencephalographic patterns corresponding to epileptiform activity. Proband WES expanded trio was performed. Results: A...
Журнал для непрерывного медицинского образования врачей КЛИНИЧЕСКИЕ РЕКОМЕНДАЦИИ Термины и определенияАнемия -гематологический синдром, характеризующийся снижением концентрации гемоглобина и/или гематокрита более чем на 2 стандартных отклонения (SD) от средних значений данного постнатального возраста.Ранняя анемия недоношенных -анемия, развивающаяся у детей 3-10-й неделе
The article reports clinical case of early neonatal manifestation a rare genetic disease – mitochondrial DNA depletion syndrome, confirmed in laboratory Russia. Mutations FBXL4, which encodes an orphan F-box protein, involved the maintenance (mtDNA), ultimately leading to disruption mtDNA replication and decreased activity respiratory chain complexes. It's reason abnormalities clinically affected tissues, most all muscular system brain. In our hydronephrosis on right, subependimal cysts...
The spread of the infection caused by new coronavirus SARS-CoV-2 (COVID-19) became pandemic on March 11, 2020. From time first cases (in November 2019, Wuhan, China), to date, a large number COVID-19 observations have been accumulated in different age groups patients both China and abroad. Published scientific data allows us conclude that children suffer from much less often than adults tolerate disease milder form, appear be asymptomatic. There is currently no final answer why are...